In general, this invention concerns the use of the Internet or world wide web to provide genetic testing. This invention describes a site and methods which singularly or together provide genetic testing including methods for using the Internet or world wide web to provide individuals with access to genetic testing and methods that ensure privacy in the selection of genetic tests, payment, performance of tests, delivery of results, interpretation of results, and genetic counseling. These methods will increase the utilization of genetic testing by individuals.
The following information is provided to assist the understanding of the reader, none of that information is admitted to be prior art to the present invention.
The human genome project is expected to identify approximately 100,000 different genes within the human genome. The sequences of these genes and the expression of the RNA and protein encoded by these genes are critical determinants of individual development, health, and disease. Variations in the sequences of these genes and in the characteristics of the products expressed from these genes underlies many aspects of human individuality including physical and mental characteristics, growth, longevity, health, and disease.
The terms “genetic test” or “genetic testing” refer to the analysis of DNA, RNA, or protein in a sample from an individual which determines, without limitation, the sequence of one, or more than one, gene within the sample, the presence or absence of one, or more than one, genetic marker, variance, mutation, polymorphism, or microsatellite sequence associated with a gene, the presence of one, or more than one, viral sequence, viral-like sequence, or repetitive sequence, a haplotype spanning one, or more than one, gene, the number of copies of one, or more than one, gene, the amount or characteristics of RNA or protein expressed from one, or more than one, gene, the arrangement of genes within the genome, the chromosome number, or integrity of chromosomes. This invention specifically concerns genetic tests useful in medicine for diagnosing genetic disease, determining an individual's propensity to multifactorial diseases, and predicting an individual's response to therapeutic drugs. Genetic tests have been developed for many inherited diseases including, but not limited to, Huntington's Disease, Cystic Fibrosis, and Phenyketonuria. Genetic tests have also been developed for genes that predispose to diseases including, but not limited to, atherosclerosis, heart failure, stroke, anemia, cancer, clotting disorders, dementia, endocrine diseases, and pulmonary diseases. Genetic tests have also been described which predict the pharmacokinetic and pharmacodynamic characteristics of many drugs including, but not limited to, drugs for the treatment of elevated cholesterol, drugs to treat cancer, drugs to reduce hypertension, and drugs to treat dementia.
New genetic tests are being discovered at a rapid rate due to continuing progress of the human genome project and clinical research using genomic tools. Genetic tests are likely to have a dramatic impact on health and disease, enabling predisposition testing and interventions to prevent disease before morbidity is apparent, providing early diagnosis and therapy, and optimizing pharmacological interventions with drugs that are likely to be safe and effective for an individual. The discovery and development of a genetic test is commonly described in scientific and medical journals and textbooks of medicine, genetics or clinical pathology, and the existence and utility of such tests is commonly known to one skilled in the art. Many genetic tests are known in the art and are described in reference books such as Scriver et al., The Molecular Basis of Inherited Disease, McGraw Hill or McKusick's Mendelian Inheritance in Man. Many genetic tests are described on the internet at sites such as www.genetests.org or many academic, sites, commercial sites, or sites dedicated to specific disease entities by non-profit, patient support groups.
The internet or world wide web is also likely to have a dramatic impact on healthcare. The term “e-health” refers to sites on the Internet that provide medical information, products, or services to individuals or to health care providers. More than 30% of all adults, and more than 70% of Internet users, visited e-health sites on the Internet in 1999. The term “site” refers to the software and hardware accessible through a URL (Universal Record Locator) or address on the Internet or world wide web and includes, without limitation, the concept, design, construction, appearance, organization, function, and content of materials posted and accessed at that URL. Current e-health sites focus on providing medical information and the sale of drugs, materials, equipment, or other products commonly available through healthcare providers or pharmacies.
Kits which enable individuals to perform home certain diagnostic tests including tests for pregnancy, glucose (diabetes), and blood clotting times are available through e-health sites or through healthcare providers or pharmacies. Kits for HIV (AIDS) testing have also been developed.
The utilization of genetic tests and the interpretation of genetic tests is significantly more complex than conventional diagnostic testing either by healthcare providers or using kits for home testing. First, the number of potential tests arising from human genomics is very large compared to the number of conventional diagnostic tests commonly performed. The genome project is expected to reveal 10,000-100,000 genes that may be analyzed by genetic tests, and each gene may contain many different genetic variations. Second, the use of genetic tests requires interpretation of the results and genetic counseling unlike conventional testing where the results are easily interpretable by comparing the amount of a product or level of activity relative to a normal range. Finally, informed consent and genetic counseling is often required for genetic tests, and often mandated by law, to assist individuals in the use of genetic information. This invention provides methods that enable selection of an appropriate genetic test and provides for the interpretation of results and genetic counseling by an individual. The term “providing genetic testing” refers to the process of procuring a sample to be tested, selecting a genetic test or test from among the many genetic tests that are developed, and reporting rest results. Providing genetic testing may include the additional steps of interpreting test results, providing genetic counseling (when necessary), or combining genetic test results with other medical information. This invention describes a method for providing genetic testing that enables individuals to utilize genetic tests in personal healthcare and lifestyle decisions.
Despite the potentially great impact of genetic tests on health care, the utilization of genetic tests is currently very limited. It should be recognized that, to date, only a fraction of the genes in the genome have been characterized, and only a small subset of variations that are predictive of disease or its response to therapy have been described. Nevertheless, it would be advantageous to develop methods for making these tests available to individuals who may realize personal benefit from predicting, preventing, or treating disease, and that these methods would have general applicability in enhancing the utilization of genetic tests and their potential impact on medical care as the number of tests increases over the next decades.
In current practice, genetic testing is controlled by health care providers such as physicians, practitioners specialized in genetics such as M.D., Ph.D., or M.A. trained geneticists or genetic counselors, and practitioners specializing in the care of individuals with disabilities or inherited genetic diseases. Genetic testing generally requires a referral from a health care provider. Samples are generally obtained by the health care provider or a central blood drawing service of a hospital or health care clinic, and samples are commonly sent to genetic testing services, often referred to as reference laboratories, such as Genzyme Genetics (genzyme.com), Quest Diagnostics (questdiagnostic.com), Gene Screen (genescreen.com), or others for testing. Genetic tests are also performed in hospital or academic laboratories. The selection of a genetic test is generally accessible only by health care providers and is generally not accessible to individuals. The present invention provides a method and enabling capabilities that are not anticipated by current practice in which health care providers have the central role in the process of selecting genetic tests, receiving the results, interpreting the results, and genetic counseling.
The methods described in this invention enable genetic testing to be controlled by the individual. These methods empower the individual without referrals to health care providers by providing the individual with access to genetic testing via the Internet or world wide web. These methods replace the need to obtain samples through a hospital or health care clinical with the ability of individuals to provide samples on their own. These methods provide individuals with access to the information required to select tests and the ability to select tests performed by genetic testing services or reference laboratories and provide for the results of these tests to be reported directly to the individual. These methods also provide the individual with the information required to interpret the tests and information for genetic counseling. Most important, the methods that are described will provide a high degree of privacy and minimize the risk of compromising the confidentiality of the individual, their decision to seek genetic testing, and the results.
Information concerning the availability of genetic testing and its utilization is commonly advertised only to health care providers and is generally not accessible to individuals. In addition, the results of genetic tests are commonly reported directly to the health care provider providing the referral. The interpretation of a genetic test is generally performed by a health care provider who has specialized training in genetics and is trained in how to interpret the results of a genetic test and provide genetic counseling. Patient support groups specializing in certain disorders or classes of disorders are often an important source of information concerning the interpretation of test results. These organizations generally do not provide testing directly, but require that individuals work through health care providers. The present invention provides a method that is not anticipated by the use of the Internet of world wide web by these organizations which provide information about specific diseases. The present invention provides integration of a diverse set of services required to select genetic tests to interpret the results, provide genetic counseling, store and distribute samples for genetic tests, and pay for tests while providing protection for individual privacy.
One of the major limitations of current practice is that it provides little privacy to individuals who may be concerned that the results of the genetic test could be used to a discriminate against them and provides many risks to confidentiality due to the number of different people and services that are involved. Every interaction with a different health care provider and every medical record that contains information on genetic tests and the results of genetic tests is a potential risk to the individual's privacy. Integrating the services necessary for genetic testing, and providing these services directly to the individual, reduces these risks and will increase the utilization of genetic testing.
There are Several Reasons that Genetic Testing Remains Underutilized:
Limited Individual Demand for Genetic Tests.
Information about genetic testing and its applications to improve medical care is complex and not widely available to individuals. Many health care providers have little background in genetics and are not able to provide individuals with information on tests that may be available and how they may benefit individual care. The ability to select genetic tests for individuals is generally restricted to a limited number of health care professionals who have the sufficient information to make such selection.
Certain genetic tests which identify an untreatable condition are often considered to have little clinical utility in the opinion of a health care provider and are often not offered to individuals. Nevertheless, many individuals are interested in having such genetic tests, even if they do not lead to therapy, simply to know whether they do, or do not, have a risk factor for a particular disease. This may lead to changes in lifestyle that may have a positive impact on the individual, their quality of life, their ability to utilize supportive resources, and their families. Information on the utility of genetic tests which enables individuals to select tests that are in their interest will increase utilization of genetic tests.
Concern about Privacy and Discrimination.
There is profound concern about the potential misuse of genetic information to discriminate against individuals who may have specific genetic variances. There is particular concern that individuals with specific genes or variant forms of genes may be discriminated in terms of access to health care, the cost of health care, employment, insurance (life, disability, health, etc.), and in social interactions. The legacy of eugenics, persistent racism, and popular perceptions concerning genetic and ethnic differences among individuals heightens concern that genetic information about individuals will be used for discrimination. There is an extensive literature on the importance of maintaining the privacy and confidentiality of genetic records to prevent such abuse, and laws designed to ensure the privacy of genetic records and prohibit discrimination are now widespread. Nevertheless, individual concern that the results of genetic tests may be misused by health care providers, insurers, employers, or even the government continues to limit the utilization of many genetic tests. Concern about privacy and discrimination is probably the single most important factor limiting the utilization of genetic tests today.
Poor Access Through Health Care Providers.
Health care providers frequently have little experience with genetic testing and many clinical laboratories may be unfamiliar with the procedures for procuring a genetic test and properly processing samples such that a test can be performed. This lack of information and experience represents a further barrier to making genetic testing widely available to individuals.
Segmented Testing Capabilities Among Many Different Genetic Testing Services or Reference Laboratories.
Genetic testing is provided by a limited number of genetic testing service providers. Many genetic tests are proprietary, meaning that one or more genetic testing services have a license which allows them to perform certain tests, while other genetic testing services are prohibited from performing such tests. As a result, it is sometimes necessary to obtain multiple samples and send the different samples to different genetic testing services to perform a complete series of genetic tests. This added complexity represents another significant barrier to making genetic testing widely available to individuals.
Inadequate Genetic Knowledge to Interpret the Results of Genetic Tests and Provide Counseling.
Genetic counseling is a critical element of genetic testing. Few health care providers or individuals have sufficient knowledge to interpret the results of a genetic test and perform genetic counseling. The need for genetic counseling in conjunction with genetic testing is mandated by law in certain jurisdictions. The inability of many health care providers to provide such counseling is another impediment to the widespread use of genetic testing, limiting the likelihood both that a physician will recommend a test and that the individual will realize the potential benefits from the test.
Public Policy.
Public policy regarding genetic testing is guided by the dual goals of using genomic information as a means for improving health and the treatment of disease, and real concern about the potential abuses of genetic information. Laws have been enacted in many jurisdictions to protect individuals against such abuses. These laws variously set standards for protecting the confidentiality of genetic records, set limits on the use of genetic information, and require genetic counseling to be provided in conjunction with genetic testing. In some cases, the added complexity of compliance, and potential penalties for noncompliance, with laws governing the privacy of medical records containing genetic information is a further impediment to the utilization of genetic testing.
Recognizing that it would be Advantageous to Improve the Utilization of Genetic Testing, the Inventor has Developed Methods which Address the Limitations Listed Above. These Methods Include:
Offer Tests with Information about their Clinical Utility to Individuals.
A method for increasing utilization of genetic testing is to make information concerning tests and their clinical utility directly available to individuals.
Direct Marketing to Individuals Through World Wide Web.
A method for increasing utilization of genetic testing is to market genetic tests directly to individuals by the Internet and world wide web. With individuals increasingly turning to the Internet for information on medical care and medical services, a web site that directly provides individuals with high quality information about genetic tests and the ability to select tests directly without the intermediation of health care providers or referrals from health care providers will increase the utilization of genetic testing.
Ensure Privacy of all Tests and Results.
A method for increasing utilization of genetic testing is to eliminate or minimize the need for intermediation by health care providers and provide individuals with direct access to genetic tests. Specifically, the method enables all aspects of genetic testing including the provision of information about the availability and utility of tests, selection of a test, procurement of samples for testing, processing of the test sample, payment for the test, and reporting of test results, interpretation of the test results, and counseling to be provided through direct and private communications with the individuals via the Internet. This method also includes strategies for collecting, storing, and distributing samples for genetic tests that protect patient privacy. Elements of this method include two, or more than two, of the following: (i) collecting a sample directly from individuals that can be used for one, or more than one, genetic test; (ii) encoding the samples with a private code and sending samples to genetic testing services for testing identified only by this code; (iii) enabling individuals to access information concerning genetic tests and select genetic tests through a web site protected by a password or private code; (iv) enabling individuals to pay directly for genetic tests without involvement of healthcare providers, managed care organizations, or third party payers; (v) providing the results of genetic tests directly to individuals ensuring privacy through the use of a password or private code; (vi) providing individuals with sufficient information to interpret the results of the genetic test and for genetic counseling through a web site protected with a password or private code. Methods for private communications via the Internet, world wide web, or alternate media including without limitation mail, fax, interactive television, or telephone, including financial transactions and the transmission of confidential information are known in the art.
An important aspect of this method is that privacy is significantly enhanced by eliminating or minimizing the role of health care providers, third-party payers, and others in procuring samples, ordering tests, payment, interpretation of results, reporting of results, genetic counseling, and reimbursement. It may be recognized that individuals may choose to make genetic information available to health care providers or may choose to accept reimbursement from third-party payers for the cost of such tests, and that such choices may limit the privacy provided by the methods described in this invention.
Provide Individuals with Direct Access to Information Required to Select Tests.
A method is described for providing individuals with access to high quality information about genetic tests, the ability to select genetic tests, direct reporting of test results, information required to interpret the test results, information for genetic counseling, and referrals for genetic counseling without the intermediary role of the health care provider. This method is an important departure from current methods for providing information to individuals and procuring genetic tests which currently requires intermediation by one or more health care providers.
Provide Storage of Samples and Sample Distribution for Testing.
A method for increasing the utilization of genetic testing is to provide a resource for storing samples that can be used for a series of genetic tests selected by the individual over time and distributing aliquots of this sample to genetic testing providers when tests are selected by the individual. Samples are preferably collected directly by the individual or may be collected by a health care provider at the direction of the individual. Samples can be collected by a variety of methods known in the art and may include blood, tissue scrapings, hair, or bodily fluids or secretions. It will be recognized that samples for genetic testing can be stable for many years and can be used repeatedly as a source of materials for genetic tests. The method involves establishing central facilities for storing samples identified only by a private code. When a test is ordered by an individual providing a password or private code that matches the sample, an aliquot of the stored sample is distributed to the appropriate genetic testing service identified only by a private code for genetic testing. Many aliquots can be taken from a single sample, and aliquots can be sent to several different genetic testing services which offer different proprietary tests or perform multiple tests at different times without the need for the individual to provide multiple samples.
One of the simple but important benefits of this invention is that by storing samples for genetic tests, it will be possible to perform multiple tests over a period of months to years without the need to obtain additional samples. This is possible because the fundamental genetic material of the individual does not change significantly over time. It will be recognized that the need to obtain a sample, by, for example, having blood drawn, is unpleasant and, in itself, an impediment to genetic testing. Thus, the storage of a sample that may be used for genetic testing makes it easier for an individual to choose to utilize genetic testing.
It is recognized that the Internet and world wide web are recognized as a means for ordering many different products and services and disseminating information about companies and their products. Many genetic testing services currently maintain sites on the world wide web which describe the company's business and the services they provide. Some provide information of a general nature of links to other sites with genetic information. The present invention provides a method that is not anticipated by these established uses of the Internet and world wide web, namely the integration of two, or more than two, of the following steps in genetic testing including selection, reporting of results, interpretation and counseling together with the storage of samples for genetic tests, mechanisms to procure tests from various providers and distribute samples for testing, and mechanisms to protect individual privacy.
Provide source of high quality information. The method involves the provision of high quality information to aid the selection of tests as well as the interpretation of the results of genetic tests and genetic counseling. The method involves creation of a set of information which can be accessed by individuals via the world wide web or other media. This information may comprise, but is not limited to, text in books, pamphlets or electronic format, video, audio, or interactive computer systems. This information can be ordered by individuals through the Internet using a password protected web site to preserve confidentiality. This method will provide superior genetic counseling to that available from many health care providers and satisfy mandated requirements for providing such counseling. This will also allow individuals to access information at an appropriate level of complexity and detail without involving additional health care providers or payers that represent a risk to privacy. Most important, the quality of this information can be controlled in a way that is not possible when counseling is provided by a health care provider who may not have in depth training in either genetics or the process of genetic counseling.
It is also recognized that a great deal of information about genetic disease, the genetic causes of disease, and genetics in general is available via Internet and the world wide web. Much of this information is provided by sources that are not qualified to assist individuals in the selection of genetic tests, interpretation of the results of genetic tests or genetic counseling. In some cases, information available on the Internet and world wide web is not designed to provide quality genetic care, but rather further political, scientific, or religious goals. In many cases there is misinformation available on the Internet and world wide web. In other cases, the information on the Internet or world wide web is of high quality and highly technical (for example Genbank, on-line medical and scientific publications, Medline, genetests.org) and is intended for use by professional scientists or health care providers, and is not suitable for use by many individuals. The present invention provides a service that is not anticipated by these established uses of the Internet and world wide web by providing high quality information designed explicitly to be useful to an individual in the selection of genetic tests, interpretation of the results, and genetic counseling.
New Testing Paradigm for Social Acceptance.
This method meets the dual societal goals of making the benefits of genetic information available to individuals to improve health care while providing protection against the use of this information for discrimination. This method is also designed to meet social and legal mandates for confidentiality and privacy of genetic information and genetic counseling. This method dramatically changes the focus of genetic testing from current methods and those known in the art which require health care providers to serve as intermediaries in genetic testing. Eliminating the need for intermediation by health care providers by providing the individual with the information and access necessary to select genetic tests and receive and interpret the results represents a fundamentally new method for utilizing genetic testing. By providing the individual with control over genetic testing and a maximum degree of privacy, societal concerns are addressed to a level far greater than current practice.
Other features and advantages of the invention will be apparent from the following description of the preferred embodiments and from the claims.